{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390532732",
  "communityStandardTitle": [
    "NM_006432.5(NPC2):c.142C>T (p.Gln48Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972202[alleleid]",
        "alleleId": 972202,
        "preferredName": "NM_006432.5(NPC2):c.142C>T (p.Gln48Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983848",
        "RCV": [
          "RCV001263851"
        ],
        "variationId": 983848
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74953080G>A?assembly=hg19",
        "id": "chr14:g.74953080G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74486377G>A?assembly=hg38",
        "id": "chr14:g.74486377G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2086712538",
        "rs": 2086712538
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74486377-G-A?dataset=gnomad_r4",
        "id": "14-74486377-G-A",
        "variant": "14:74486377 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74486377,
          "referenceAllele": "G",
          "start": 74486376
        }
      ],
      "hgvs": [
        "NC_000014.9:g.74486377G>A",
        "CM000676.2:g.74486377G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74953080,
          "referenceAllele": "G",
          "start": 74953079
        }
      ],
      "hgvs": [
        "NC_000014.8:g.74953080G>A",
        "CM000676.1:g.74953080G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74022833,
          "referenceAllele": "G",
          "start": 74022832
        }
      ],
      "hgvs": [
        "NC_000014.7:g.74022833G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12005,
          "referenceAllele": "C",
          "start": 12004
        }
      ],
      "hgvs": [
        "NG_007117.1:g.12005C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000491"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "C",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000555619.6:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451112.2:p.Gln48Ter",
        "hgvsWellDefined": "ENSP00000451112.2:p.Gln48_Leu151delinsLeuSerLysGlyGlnSerTyrSerValAsnValThrPheThrSerAsnIleGlnSerLysSerSerLysAlaValValHisGlyIleLeuMetGlyValProValProPheProIleProGluProAspGlyCysLysSerGlyIleAsnCysProIleGlnLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760130",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555619.6:c.142C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006432.5:c.142C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451112.2:p.Gln48Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006423.1:p.Gln48Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000238633.6:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000238633.2:p.Gln48Ter",
        "hgvsWellDefined": "ENSP00000238633.2:p.Gln48_Leu148delinsLeuSerLysGlyGlnSerTyrSerValAsnValThrPheThrSerAsnIleGlnSerLysSerSerLysAlaValValHisGlyIleLeuMetGlyValProValProPheProIleProGluProAspGlyCysLysSerGlyIleAsnCysProIleGlnLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "C",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000434013.6:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412103.2:p.Gln48Ter",
        "hgvsWellDefined": "ENSP00000412103.2:p.Gln48_Phe201delinsLeuSerLysGlyGlnSerTyrSerValAsnValThrPheThrSerAsnIleGlnSerLysSerSerLysAlaValValHisGlyIleLeuMetGlyValProValProPheProIleProGluProAspGlyCysLysSerGlyIleAsnCysProIleGlnLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleMetPheProCysLeuPheSerAlaHisCysProMetLeuAlaThrGluHisArgCysLeuGlnLeuGlnMetGluThrLysSerLeuArgPheTrpSerArgArgGlyMetSerValTrpLeuProSerProAlaGlyAlaTrpArgArgThrAlaProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000541064.5:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442488.1:p.Gln48Ter",
        "hgvsWellDefined": "ENSP00000442488.1:p.Gln48_Leu125delinsLeuSerLysGlyGlnSerTyrSerValAsnValThrPheThrSerAsnIleGlnSerLysSerSerLysAlaValValHisGlyIleLeuMetGlyValProValProPheProIleProGluProAspGlyCysLysSerGlyIleAsnCysProIleGlnLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000553490.5:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451180.1:p.Gln48Ter",
        "hgvsWellDefined": "ENSP00000451180.1:p.Gln48Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000554482.1:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451314.1:p.Pro37Leu",
        "hgvsWellDefined": "ENSP00000451314.1:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000555592.1:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450887.1:p.Gln48Ter",
        "hgvsWellDefined": "ENSP00000450887.1:p.Gln48Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000555619.5:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451112.1:p.Gln48Ter",
        "hgvsWellDefined": "ENSP00000451112.1:p.Gln48_Leu151delinsLeuSerLysGlyGlnSerTyrSerValAsnValThrPheThrSerAsnIleGlnSerLysSerSerLysAlaValValHisGlyIleLeuMetGlyValProValProPheProIleProGluProAspGlyCysLysSerGlyIleAsnCysProIleGlnLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000556009.5:c.207C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 215,
          "referenceAllele": "C",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000557510.5:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451206.1:p.Gln48Ter",
        "hgvsWellDefined": "ENSP00000451206.1:p.Gln48_Pro174delinsLeuSerLysGlyGlnSerTyrSerValAsnValThrPheThrSerAsnIleGlnSerLysSerSerLysAlaValValHisGlyIleLeuMetGlyValProValProPheProIleProGluProAspGlyCysLysSerGlyIleAsnCysProIleGlnLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerLeuSerGlyGlyGluArgAlaTrpValGluGlyArgLysTrpArgArgAsnGlnThrGluThrLysSerValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139710727",
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_006432.3:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006423.1:p.Gln48Ter",
        "hgvsWellDefined": "NP_006423.1:p.Gln48_Leu151delinsLeuSerLysGlyGlnSerTyrSerValAsnValThrPheThrSerAsnIleGlnSerLysSerSerLysAlaValValHisGlyIleLeuMetGlyValProValProPheProIleProGluProAspGlyCysLysSerGlyIleAsnCysProIleGlnLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828102920",
      "coordinates": [
        {
          "allele": "T",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_001363688.1:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350617.1:p.Gln48Ter",
        "hgvsWellDefined": "NP_001350617.1:p.Gln48_Pro174delinsLeuSerLysGlyGlnSerTyrSerValAsnValThrPheThrSerAsnIleGlnSerLysSerSerLysAlaValValHisGlyIleLeuMetGlyValProValProPheProIleProGluProAspGlyCysLysSerGlyIleAsnCysProIleGlnLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerLeuSerGlyGlyGluArgAlaTrpValGluGlyArgLysTrpArgArgAsnGlnThrGluThrLysSerValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139710727",
      "coordinates": [
        {
          "allele": "T",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_006432.4:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006423.1:p.Gln48Ter",
        "hgvsWellDefined": "NP_006423.1:p.Gln48_Leu151delinsLeuSerLysGlyGlnSerTyrSerValAsnValThrPheThrSerAsnIleGlnSerLysSerSerLysAlaValValHisGlyIleLeuMetGlyValProValProPheProIleProGluProAspGlyCysLysSerGlyIleAsnCysProIleGlnLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828608911",
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "C",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_001375440.1:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362369.1:p.Gln48Ter",
        "hgvsWellDefined": "NP_001362369.1:p.Gln48_Leu125delinsLeuSerLysGlyGlnSerTyrSerValAsnValThrPheThrSerAsnIleGlnSerLysSerSerLysAlaValValHisGlyIleLeuMetGlyValProValProPheProIleProGluProAspGlyCysLysSerGlyIleAsnCysProIleGlnLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139710727",
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "C",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_006432.5:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006423.1:p.Gln48Ter",
        "hgvsWellDefined": "NP_006423.1:p.Gln48_Leu151delinsLeuSerLysGlyGlnSerTyrSerValAsnValThrPheThrSerAsnIleGlnSerLysSerSerLysAlaValValHisGlyIleLeuMetGlyValProValProPheProIleProGluProAspGlyCysLysSerGlyIleAsnCysProIleGlnLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555619.6:c.142C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006432.5:c.142C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451112.2:p.Gln48Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006423.1:p.Gln48Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}